The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 540-547

  Fecarotta, Simona ^a   Amitrano, Michele ^a   Romano, Alfonso ^a   Della Casa, Roberto ^a   Bruschini, Diana ^a   Astarita, Luca ^a   Parenti, Giancarlo ^a,b   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

Children; Dysphagia; Miglustat; Niemann Pick disease type C; Videofluoroscopic swallowing study

Indexed keywords

ANTICONVULSIVE AGENT; BARIUM; MIGLUSTAT;

ARTICLE; BLOOD BRAIN BARRIER; CASE REPORT; CHILD; CYTOCHEMISTRY; DISEASE EXACERBATION; DISEASE SEVERITY; DRUG EFFICACY; DYSPHAGIA; EPILEPSY; FEMALE; FLUOROSCOPY; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMAGE ANALYSIS; LONG TERM CARE; MALE; MOLECULAR DIAGNOSIS; MORBIDITY; NIEMANN PICK DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SWALLOWING; TREATMENT DURATION; VIDEORECORDING;

1-DEOXYNOJIRIMYCIN; CHILD; DEGLUTITION; DEGLUTITION DISORDERS; DEMOGRAPHY; ENZYME INHIBITORS; FEMALE; FLUOROSCOPY; HUMANS; INFANT; MALE; NIEMANN-PICK DISEASE, TYPE C; VIDEO RECORDING;

EID: 79951985023     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33847     Document Type: Article

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